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Protein Ontology Report - hCNGA3/var:V529M

PR:000000744 - http://purl.obolibrary.org/obo/PR_000000744
Ontology Information
PRO ID PR:000000744 Show OBO stanza / PAF / GPI
PRO name cyclic nucleotide-gated cation channel alpha-3 sequence variant V529M (human)
Synonyms
PRO-short-label: EXACT: hCNGA3/var:V529M
PRO-proteoform-std: NARROW: UniProtKB:Q16281-1, Val-529, CHEBI:16044
Other: EXACT: cyclic nucleotide-gated cation channel alpha-3 sequence variant 4 (human)
Definition A cyclic nucleotide-gated cation channel alpha-3 (human) that has a Met residue at the position equivalent to Val-529 of the amino acid sequence represented by UniProtKB:Q16281-1. Example: UniProtKB:Q16281-1, Val-529, CHEBI:16044. [PMID:9662398, PRO:CNA, PRO:DAN]
Comment Note: This residue is located within the cytoplasmic cyclic nucleotide binding domain (CNBD).
PRO Category organism-sequence
Parent PR:Q16281 cyclic nucleotide-gated cation channel alpha-3 (human)
Taxon NCBITaxon:9606 Homo sapiens
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000744
hCNGA3/var:V529M
Val-529, CHEBI:16044
associated_with_disease_progression DOID:13911 achromatopsia PMID:9662398

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